Variant report

Variant	nsv978842
Chromosome Location	chr19:53506641-53508239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:53508128-53508131	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:53507748-53507877	ProgFib	skin:	n/a	n/a
3	USF1	chr19:53507682-53507805	HepG2	liver:	n/a	chr19:53507769-53507780
4	USF1	chr19:53507642-53507911	H1-hESC	embryonic stem cell:	n/a	chr19:53507769-53507780

Variant related genes	Relation type
ENSG00000268282	TF binding region
ENSG00000267943	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527719645	chr19:53506655-53506656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146017114	chr19:53506678-53506679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575612557	chr19:53506729-53506730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16984293	chr19:53506732-53506733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs75645744	chr19:53506754-53506755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1650941	chr19:53506797-53506798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183277143	chr19:53506799-53506800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117242933	chr19:53506807-53506808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576936634	chr19:53506810-53506811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1661914	chr19:53506834-53506835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138767028	chr19:53506842-53506843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141135398	chr19:53506856-53506857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542891855	chr19:53506905-53506906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561610714	chr19:53506914-53506915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113405145	chr19:53506945-53506946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528808752	chr19:53506953-53506954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150712769	chr19:53507005-53507006	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1661913	chr19:53507033-53507034	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1661912	chr19:53507064-53507065	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200732046	chr19:53507069-53507070	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187860311	chr19:53507092-53507093	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372005037	chr19:53507095-53507096	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569059234	chr19:53507100-53507101	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191481504	chr19:53507116-53507117	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538752761	chr19:53507128-53507129	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566737919	chr19:53507133-53507134	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183719608	chr19:53507150-53507151	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189645147	chr19:53507165-53507166	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371236866	chr19:53507185-53507186	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192497488	chr19:53507202-53507203	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11671598	chr19:53507205-53507206	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs556283937	chr19:53507218-53507219	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574617917	chr19:53507220-53507221	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543182955	chr19:53507234-53507235	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554834926	chr19:53507241-53507242	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73068756	chr19:53507242-53507243	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1661911	chr19:53507245-53507246	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1661910	chr19:53507265-53507266	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1650940	chr19:53507299-53507300	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs544243432	chr19:53507319-53507320	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563528501	chr19:53507333-53507334	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371899647	chr19:53507340-53507341	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs117648425	chr19:53507388-53507389	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11882069	chr19:53507401-53507402	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548686184	chr19:53507404-53507405	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566514498	chr19:53507409-53507410	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs527490983	chr19:53507416-53507417	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143953532	chr19:53507419-53507420	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs185411255	chr19:53507429-53507430	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs537823459	chr19:53507430-53507431	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53497600-53509800	Weak transcription	Right Atrium	heart
2	chr19:53498000-53510400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:53499200-53507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:53503200-53507000	Weak transcription	Placenta	Placenta
5	chr19:53506000-53509800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:53506200-53507200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:53507000-53507600	Active TSS	Brain Germinal Matrix	brain
8	chr19:53507000-53510400	Enhancers	Placenta	Placenta
9	chr19:53507200-53507400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr19:53507200-53507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr19:53507200-53507600	Active TSS	Brain Anterior Caudate	brain
12	chr19:53507200-53507600	Active TSS	Fetal Brain Female	brain
13	chr19:53507200-53507600	Enhancers	K562	blood
14	chr19:53507200-53507800	Active TSS	Brain Substantia Nigra	brain
15	chr19:53507200-53508400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:53507400-53507600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr19:53507400-53507600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr19:53507400-53507800	Enhancers	Fetal Heart	heart
19	chr19:53507600-53509600	Weak transcription	K562	blood
20	chr19:53507800-53508000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:53507800-53508400	ZNF genes & repeats	Gastric	stomach
22	chr19:53508000-53513200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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